Trait
Outward bow-leggedness
Clinical name: Genu varum
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Summary
- Also called
- Outward bowing at knees, Genu vara, Genua vara
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test65 genes linked to Outward bow-leggedness
Changes in these genes cause rare conditions in which Outward bow-leggedness is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| BGNbiglycan | Always | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Always | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Always | In 4 conditions |
| DYMdymeclin | Always | In 2 conditions |
| MMP9matrix metallopeptidase 9 | Always | In 1 condition |
| RPL13ribosomal protein L13 | Always | In 1 condition |
| SRSF1serine and arginine rich splicing factor 1 | Always | In 1 condition |
| COMPcartilage oligomeric matrix protein | Very often (80–99%) | In 3 conditions |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Very often (80–99%) | In 1 condition |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Very often (80–99%) | In 1 condition |
| DMP1dentin matrix acidic phosphoprotein 1 | Very often (80–99%) | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Very often (80–99%) | In 2 conditions |
| MMP13matrix metallopeptidase 13 | Very often (80–99%) | In 3 conditions |
| SHOXSHOX homeobox | Very often (80–99%) | In 1 condition |
| TCTN3tectonic family member 3 | Very often (80–99%) | In 1 condition |
| COL10A1collagen type X alpha 1 chain | Often (30–79%) | In 2 conditions |
| EFL1elongation factor like GTPase 1 | Often (30–79%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Often (30–79%) | In 3 conditions |
| FN1fibronectin 1 | Often (30–79%) | In 2 conditions |
| IHHIndian hedgehog signaling molecule | Often (30–79%) | In 2 conditions |
| KIF22kinesin family member 22 | Often (30–79%) | In 2 conditions |
| LTBP1latent transforming growth factor beta binding protein 1 | Often (30–79%) | In 1 condition |
| MATN3matrilin 3 | Often (30–79%) | In 1 condition |
| PDE4Dphosphodiesterase 4D | Often (30–79%) | In 1 condition |
| PHEXphosphate regulating endopeptidase X-linked | Often (30–79%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Often (30–79%) | In 1 condition |
| PRKG2protein kinase cGMP-dependent 2 | Often (30–79%) | In 1 condition |
| RBM8ARNA binding motif protein 8A | Often (30–79%) | In 2 conditions |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Often (30–79%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Often (30–79%) | In 1 condition |
| VDRvitamin D receptor | Often (30–79%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Sometimes (5–29%) | In 1 condition |
| CCN2cellular communication network factor 2 | Sometimes (5–29%) | In 1 condition |
| CCN6cellular communication network factor 6 | Sometimes (5–29%) | In 2 conditions |
| CFL2cofilin 2 | Sometimes (5–29%) | In 1 condition |
| COL9A1collagen type IX alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL9A2collagen type IX alpha 2 chain | Sometimes (5–29%) | In 2 conditions |
| COL9A3collagen type IX alpha 3 chain | Sometimes (5–29%) | In 1 condition |
| DDRGK1DDRGK domain containing 1 | Sometimes (5–29%) | In 2 conditions |
Show 25 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| HPGD15-hydroxyprostaglandin dehydrogenase | Sometimes (5–29%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Sometimes (5–29%) | In 2 conditions |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Sometimes (5–29%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Sometimes (5–29%) | In 1 condition |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 1 condition |
| LMOD3leiomodin 3 | Sometimes (5–29%) | In 1 condition |
| NEBnebulin | Sometimes (5–29%) | In 1 condition |
| POLRMTRNA polymerase mitochondrial | Sometimes (5–29%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Sometimes (5–29%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 1 condition |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Sometimes (5–29%) | In 1 condition |
| TPM2tropomyosin 2 | Sometimes (5–29%) | In 1 condition |
| TTI1TELO2 interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| WDR62WD repeat domain 62 | Sometimes (5–29%) | In 1 condition |
| ANAPC1anaphase promoting complex subunit 1 | Rarely (1–4%) | In 1 condition |
| ACANaggrecan | Not recorded | In 1 condition |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Not recorded | In 1 condition |
| NKX3-2NK3 homeobox 2 | Not recorded | In 1 condition |
| ORC1origin recognition complex subunit 1 | Not recorded | In 1 condition |
| ORC6origin recognition complex subunit 6 | Not recorded | In 1 condition |
| RAB23RAB23, member RAS oncogene family | Not recorded | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Not recorded | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Not recorded | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Not recorded | In 1 condition |
| XYLT1xylosyltransferase 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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